Archive -
09 - 2011

September 29, 2011 (Newswise) Childrens Hospital of Philadelphia Researchers Add to Gene Inventory of a Complex Disorder.The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene networks involved in the origin of this complex disorder, in which patients depend on frequent insulin injections to control their blood sugar levels.Genome-wide association studies, as we used here, have been extremely powerful in identifying gene locations involved in the pathogenesis of complex, common diseases, said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Childrens Hospital of Philadelphia. The larger the cohort used, the more discoveries we can make, and the more we find intriguing biological pathways offering insight into causes of disease.The study appears online today in Public Library of Science Genetics (PLoS Genetics).The genome-wide association study (GWAS), in which Hakonarson collaborated with Constantine Polychronakos, M.D., director of Pediatric Endocrinology at McGill University, was a meta-analysis, investigating combined DNA data from six large publicly available datasets of type 1 diabetes. The six studies included data from approximately 10,000 individuals with the disease and 17,000 control subjects. The databases contained single nucleotide polymorphisms (SNPs)single-base changes in DNA sequence that serve as signposts for gene mutations associated with them.SNPs are not disease-causing mutations, but they reside in gene regions associated with the disease, and set the stage for more detailed sequencing studies to pinpoint causative mutations. Previous studies by Hakonarson and colleagues over the past four years had already discovered SNPs related to type 1 diabetes.In addition to validating results from previous studies, the current research identified, then replicated, three novel SNPs located in regions of considerable biological interest, being involved in protein-protein interactions, inflammation and cell signaling activity. Our study found SNPs that we had not expected to have any connection to type 1 diabetes, said Hakonarson. The strongest association among the three SNPs was in the region of the LMO7 gene on chromosome 13. We previously associated another member of the LMO gene family with the childhood cancer neuroblastoma. This gene family plays an important role in protein-protein interactions, but it would not have occurred to anyone that it may be active in type 1 diabetes. GWAS continues to turn up surprising biological associations.Hakonarson added that follow-up studies will focus on resequencing the regions linked to the SNPs to narrow down causative mutations. Further research will concentrate on investigating how specific mutations function in the development of type 1 diabetes.The current study does not yet suggest new diabetes treatments, which are expected to evolve from greater understanding of the fundamental biology of the disease. The scientists estimate that researchers have discovered gene regions accounting for roughly two-thirds of the genetic risk of type 1 diabetes. Were much further along in finding the full genetic architecture in type 1 diabetes than in any other complex disorder, said co-author, Struan F. A. Grant, Ph.D., associate director of the Center for Applied Genomics at Childrens Hospital. But theres clearly much work ahead in translating knowledge to clinical use.Funding for the study came from the National Institute of Diabetes and Digestive and Kidney Diseases, the Cotswold Foundation, Genome Canada, the Ontario Genomics Institute and the Juvenile Diabetes Research Foundation. The Childrens Hospital of Philadelphia also provided an Institutional Development Award to the Center for Applied Genomics.A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci, PLoS Genetics, published online Sept. 29, 2011, freely available athttp://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002293.About The Childrens Hospital of Philadelphia: The Childrens Hospital of Philadelphia was founded in 1855 as the nations first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Childrens Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking third in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 516-bed hospital recognition as a leading advocate for children and adolescents. For more information, visithttp://www.chop.edu.

September 29, 2011 (Roche) New generation of test strips offers advanced chemistry and safety for self-monitoring of blood glucose.Roche announced today that it has received clearance from the U.S. Food and Drug Administration (FDA) for its Accu-Chek Aviva Plus test system. The new maltose-independent test strip is designed to prevent the interference of maltose on blood sugar readings which can occur in rare cases when drugs containing or metabolizing to maltose are parenterally administered. The Accu-Chek Aviva Plus test strip is cleared for patient self-monitoring of blood glucose and can be used with the proven Accu-Chek Aviva system*.We are very pleased to announce that our new product for self-monitoring of blood glucose will also be available for people with diabetes in the US, said Daniel O Day, Chief Operating Officer of Roche Diagnostics. With its advanced technology and chemistry it is designed to support patients to manage their condition more effectively. This clearance is a significant milestone for our organization one that will position us well for the clearance of other products in our pipeline.According to the 2011 National Diabetes Fact Sheet published by the Centers for Diseases Control and Prevention, more than 25 million people in the US live with diabetes. However, seven million are currently undiagnosed and 1.9 million new cases of diabetes were diagnosed in people aged 20 years and older in 2010. It is also estimated that 79 million people live with pre-diabetes in the US.* for single patient use onlyAbout Roche Diabetes CareRoche Diabetes Care is a pioneer in the development of blood glucose monitoring systems and a global leader for diabetes management systems and services. For more than 35 years, the Accu-Chek brand has been dedicated to enable people with diabetes to live life as normal and active as possible as well as to empower healthcare professionals manage their patients condition in an optimal way. Today, the Accu-Chek portfolio offers people with diabetes and healthcare professionals innovative products and impactful solutions for convenient, efficient and effective diabetes management. It encompasses blood glucose meters, insulin delivery systems, lancing devices, data management systems and education programs leading to an improved medical outcome. For more information:www.accu-chek.com.About RocheHeadquartered in Basel, Switzerland, Roche is a leader in research-focused healthcare with combined strengths in pharmaceuticals and diagnostics. Roche is the worlds largest biotech company with truly differentiated medicines in oncology, virology, inflammation, metabolism and CNS. Roche is also the world leader in in-vitro diagnostics, tissue-based cancer diagnostics and a pioneer in diabetes management. Roches personalised healthcare strategy aims at providing medicines and diagnostic tools that enable tangible improvements in the health, quality of life and survival of patients. In 2010, Roche had over 80000 employees worldwide and invested over 9 billion Swiss francs in R&D. The Group posted sales of 47.5 billion Swiss francs. Genentech, United States, is a wholly owned member of the Roche Group. Roche has a majority stake in Chugai Pharmaceutical, Japan. For more information:www.roche.com.All trademarks used or mentioned in this release are protected by law.